Tag Archives: genetics

After dis­cov­er­ing that he held the LRRK2 muta­tion on his twelfth chro­mo­some (indic­at­ing that his life­time risk of devel­op­ing Par­kin­son’s dis­ease is 30–75% rather than the typ­ic­al 1%), Google co-founder Sergey Brin became one of the first phil­an­throp­ists to fund research into a dis­ease based on the res­ults of a genet­ic test.

Most Par­kin­son’s research, like much of med­ic­al research, relies on the clas­sic sci­entif­ic meth­od: hypo­thes­is, ana­lys­is, peer review, pub­lic­a­tion. Brin pro­poses a dif­fer­ent approach, one driv­en by com­pu­ta­tion­al muscle and stag­ger­ingly large data sets. It’s a meth­od that draws on his algorithmic sensibilityâ€”and Google’s stor­ied faith in com­put­ing powerâ€”with the aim of accel­er­at­ing the pace and increas­ing the poten­tial of sci­entif­ic research. “Gen­er­ally the pace of med­ic­al research is gla­cial com­pared to what I’m used to in the Inter­net,” Brin says. “We could be look­ing lots of places and col­lect­ing lots of inform­a­tion. And if we see a pat­tern, that could lead some­where.’ [â€¦]

In Brin’s way of think­ing, each of our lives is a poten­tial con­tri­bu­tion to sci­entif­ic insight. We all go about our days, mak­ing choices, eat­ing things, tak­ing med­ic­a­tions, doing thingsâ€”generating what is inel­eg­antly called data exhaust. A cen­tury ago, of course, it would have been impossible to actu­ally cap­ture this inform­a­tion, par­tic­u­larly without a spe­cif­ic hypo­thes­is to guide a research­er in what to look for. Not so today. With con­tem­por­ary com­put­ing power, that data can be tracked and ana­lyzed. “Any exper­i­ence that we have or drug that we may take, all those things are indi­vidu­al pieces of inform­a­tion,” Brin says. “Indi­vidu­ally, they’re worth­less, they’re anec­dot­al. But taken togeth­er they can be very power­ful.” [â€¦]

“Even if any giv­en indi­vidu­al’s inform­a­tion is not of that great qual­ity, the quant­ity can make a big dif­fer­ence. Pat­terns can emerge.” [â€¦]

This is what Jim Gray, the late Microsoft research­er and com­puter sci­ent­ist, called the fourth paradigm of sci­ence, the inev­it­able evol­u­tion away from hypo­thes­is and toward pat­terns. Gray pre­dicted that an “exa­flood” of data would over­whelm sci­ent­ists in all dis­cip­lines, unless they recon­ceived their notion of the sci­entif­ic pro­cess and applied massive com­put­ing tools to engage with the data. “The world of sci­ence has changed,” Gray said in a 2007 speech–from now on, the data would come first.

The pro­file is not­able for oth­er reas­ons, too–particularly in show­ing how Brin has dealt with learn­ing of his high risk of devel­op­ing Par­kin­son’s in a very cal­cu­lated way and how the idea that one’s genet­ic inform­a­tion is “tox­ic know­ledge” is becom­ing a dated one.

I was also intrigued to learn that this pro­posed meth­od of science–large-scale per­son­al track­ing to cre­ate huge data sets in order to dis­cov­er pos­sible mean­ing­ful associations–is very sim­il­ar to the top­ic of Brin’s unfin­ished Stan­ford PhD.

Neither socioeco­nom­ic status, edu­ca­tion­al attain­ment, fam­ily income, mar­it­al status, nor an indic­ant of reli­gious com­mit­ment could account for more than about 3% of the vari­ance in well-being (WB). From 44% to 52% of the vari­ance in WB, how­ever, is asso­ci­ated with genet­ic vari­ation. Based on the retest of smal­ler samples of twins after inter­vals of 4, 5 and 10 years, we estim­ate that the her­it­ab­il­ity of the stable com­pon­ent of sub­ject­ive well-being approaches 80%.

Are those people who go to work in suits hap­pi­er and more ful­filled than those who go in over­alls? Do people high­er on the socioeco­nom­ic lad­der enjoy life more than those lower down? Can money buy hap­pi­ness? As a con­sequence of racism and rel­at­ive poverty, are black Amer­ic­ans less con­ten­ted on aver­age than white Amer­ic­ans? Because men still hold the reins of power, are men hap­pi­er than women? [This study] indic­ated that the answer to these ques­tions, sur­pris­ingly, is “no”. [The] authors poin­ted out that people have a remark­able abil­ity to adapt, both to bad for­tune and to good, so that one’s life cir­cum­stances, unless they are very bad indeed, do not seem to have last­ing effects on one’s mood.

Accord­ing to Shenk, and he is per­suas­ive, none of this stuff is genet­ic­ally determ­ined, if by “determ­ined” you mean exclus­ively or largely dic­tated by genes. Instead, “one large group of sci­ent­ists,” a “van­guard” that Shenk has labeled “the inter­ac­tion­ists,” insists that the old genes-plus-envir­on­ment mod­el (G+E) must be jet­tisoned and replaced by a mod­el they call GxE, emphas­iz­ing “the dynam­ic inter­ac­tion between genes and the envir­on­ment.” They don’t dis­count hered­ity, as the old blank-slate hypo­thes­is of human nature once did. Instead, they assert that “genes power­fully influ­ence the form­a­tion of all traits, from eye col­or to intel­li­gence, but rarely dic­tate pre­cisely what those traits will be.”

[Chess grand­mas­ter Judit PolgÃ¡r] and her two older sis­ters, Grand­mas­ter Susan and Inter­na­tion­al Mas­ter Sofia, were part of an edu­ca­tion­al exper­i­ment car­ried out by their fath­er LÃ¡szlÃ³ PolgÃ¡r, in an attempt to prove that chil­dren could make excep­tion­al achieve­ments if trained in a spe­cial­ist sub­ject from a very early age. “Geni­uses are made, not born,” was LÃ¡szlÃ³’s thes­is. He and his wife Klara edu­cated their three daugh­ters at home, with chess as the spe­cial­ist sub­ject. How­ever, chess was not taught to the exclu­sion of everything else. Each of them has sev­er­al dip­lo­mas and speaks four to eight lan­guages.

I’m not a big fol­low­er of ath­let­ics, but two news items have some­how made their way to my men­tal inbox from the IAAF World Ath­let­ics Cham­pi­on­ships in Ber­lin: how ridicu­lously fast Usain Bolt is, and the con­tro­versy sur­round­ing Caster Semenya.

Let’s leave aside that being male is not the be-all, end-all of ath­let­ic suc­cess. A coun­try’s wealth, coach­ing facil­it­ies, nutri­tion and oppor­tun­ity determ­ine the cre­ation of a world-class ath­lete far more than a Y chro­mo­some or a penis ever could.

[â€¦] Gender–that is, how we com­port and con­ceive of ourselves–is a remark­ably flu­id social con­struc­tion. Even our phys­ic­al sex is far more ambigu­ous and flu­id than is often ima­gined or taught. Med­ic­al sci­ence has long acknow­ledged the exist­ence of mil­lions of people whose bod­ies com­bine ana­tom­ic­al fea­tures that are con­ven­tion­ally asso­ci­ated with either men or women and/or have chro­mo­somal vari­ations from the XX or XY of women or men. Many of these “inter­sex” indi­vidu­als, estim­ated at one birth in every 1,666 in the United States alone, are leg­ally oper­ated on by sur­geons who force tra­di­tion­al norms of gen­italia on new­born infants.

One example is the RR vari­ant ofÂ ACTN3, a gene that affects fast gen­er­a­tion of mus­cu­lar force and cor­rel­ates with excel­lence atÂ speed and power sports. The oppos­ite vari­ant of the gene is called XX.Â Test­sÂ indic­ate that the ratio of people with RR to people with XX is 1 to 1 among Asi­ans, 2 to 1 among European whites, and more than 4 to 1 among Afric­an-Amer­ic­ans.